ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023731
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000231071
RCV000576038
RCV001080839
ClinVar Variation:
237974
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Gly672Ser
CA035412
NM_001318832.2:c.2014G>A